دورية أكاديمية
Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms.
| العنوان: | Genotype-phenotype correlation analysis for three primary angle closure glaucoma-associated genetic polymorphisms. |
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| المؤلفون: | Wei X; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore., Nongpiur ME, de Leon MS, Baskaran M, Perera SA, How AC, Vithana EN, Khor CC, Aung T |
| المصدر: | Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Feb 24; Vol. 55 (2), pp. 1143-8. Date of Electronic Publication: 2014 Feb 24. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo) Original Publication: St. Louis, Mosby. |
| مواضيع طبية MeSH: | Polymorphism, Single Nucleotide*, Carrier Proteins/*genetics , Collagen Type XI/*genetics , Glaucoma, Angle-Closure/*genetics , Protein D-Aspartate-L-Isoaspartate Methyltransferase/*genetics, Disease Progression ; Female ; Filtering Surgery ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Glaucoma, Angle-Closure/diagnosis ; Glaucoma, Angle-Closure/surgery ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index |
| مستخلص: | Purpose: Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102. The purpose of this study was to investigate whether these single nucleotide polymorphisms (SNPs) affect the phenotype of PACG patients. Methods: A retrospective analysis was performed for 700 Singaporean Chinese PACG patients who had been genotyped. The associations between the three SNPs and clinical features related to severity of glaucoma were studied. For a subgroup of patients who had ≥ 5 years of follow-up and ≥ 5 reliable visual field (VF) tests, differences in glaucoma progression, as measured by the proportion of VF progression and blindness, were compared among groups with different genotypes. Results: The minor allele frequencies at COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102 were 36%, 2.1%, and 41.5%, respectively. There were no significant differences in sex, diagnosis (acute primary angle closure [APAC] versus non-APAC), age at diagnosis, laterality of glaucoma, or need for filtration surgery among patients with different genotypes (all P > 0.05). We also found no significant difference between genotypes and the IOP at presentation, and other clinical characteristics at DNA collection (vertical cup-to-disc ratio, best corrected visual acuity, baseline VF mean deviation, or pattern standard deviation). For the subgroup analysis, we did not observe significant associations between VF progression and the proportion of blindness with any of the PACG susceptibility loci. Conclusions: The three genetic susceptibility loci for PACG did not underlie any major phenotypic diversity in terms of disease severity or progression. |
| فهرسة مساهمة: | Keywords: angle closure glaucoma; association; genetics; single nucleotide polymorphism |
| المشرفين على المادة: | 0 (COL11A1 protein, human) 0 (Carrier Proteins) 0 (Collagen Type XI) 0 (PLEKHA7 protein, human) EC 2.1.1.77 (PCMTD1 protein, human) EC 2.1.1.77 (Protein D-Aspartate-L-Isoaspartate Methyltransferase) |
| تواريخ الأحداث: | Date Created: 20140130 Date Completed: 20140414 Latest Revision: 20220408 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1167/iovs.13-13552 |
| PMID: | 24474268 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-5783 |
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| DOI: | 10.1167/iovs.13-13552 |